Thallasemia occurs when there are variant or missing genes that affect the body's ability to make hemoglobin. Hemoglobin is the protein found in red blood cells that carries oxygen to other parts of the body. People who has thallasemia produces less hemoglobin and have fewer red blood cells circulating than normal, which results in mild to severe anemia.
Picture of red blood cells (Novartis, Oncology. "Iron Metabolism." Iron overload. 2007. Novartis Pharma. 15 Feb 2007 http://www.irontoxicity.com.)
There are many different combinations of variant genes, that can cause the various types of Thallasemia. Thallasemia is always passed on from parents to children. Carriers of the Thallasemia trait often have no signs of the illness, other than mild anemia and can pass the variant genes on to their children. People who recieved variant genes from both parents will have mild to severe forms of Thallasemia. If you only get the variant gene from one parent and normal genes from the other parent, you will only be a carrier of the Thallasemia trait. The only way to prevent passing Thallasemia on to your child, is to be tested for the gene.
("About thalassemia." Impact Children. 11 oct. 2003.
Impact Children Foundation. 15 Feb 2007 http://www.impactchildren.org.)
Hemoglobin has two kinds of protein chains called alpha globin chains and beta globin chains.
Thallasemia can be caused by mutations in the alpha chain of the hemoglobin molecule. Normally, there are two alpha chain genes located on each #16 chromosome, for a total of 4. The alpha chain is an important component of fetal hemoglobin (which is usually made before birth) and hemoglobin A and hemoglobin A2 (which are present after birth). If an mutation happens to the alpha chain, it affects the body's ability to produce Hemoglobin, which causes the disorder.
Thallassemia patients red blood cells are often distorted and sometimes immature, containing a nuclues. This is because of an error, due to a point mutation in the beta-globin gene. A faulty beta-globin protein is then made, leading to severe anemia.
If the mutation affects the alpha-globin part of Hemoglobin, the disorder is alpha thallassemia and if the mutation happens to the beta-lobin part, it is called beta Thallasemia.
The Causes of Thallasemia
Thallasemia occurs when there are variant or missing genes that affect the body's ability to make hemoglobin. Hemoglobin is the protein found in red blood cells that carries oxygen to other parts of the body. People who has thallasemia produces less hemoglobin and have fewer red blood cells circulating than normal, which results in mild to severe anemia.
Picture of red blood cells (Novartis, Oncology. "Iron Metabolism."
Iron overload. 2007. Novartis Pharma. 15 Feb 2007 http://www.irontoxicity.com.)
There are many different combinations of variant genes, that can cause the various types of Thallasemia. Thallasemia is always passed on from parents to children. Carriers of the Thallasemia trait often have no signs of the illness, other than mild anemia and can pass the variant genes on to their children. People who recieved variant genes from both parents will have mild to severe forms of Thallasemia. If you only get the variant gene from one parent and normal genes from the other parent, you will only be a carrier of the Thallasemia trait. The only way to prevent passing Thallasemia on to your child, is to be tested for the gene.
("About thalassemia." Impact Children. 11 oct. 2003.
Impact Children Foundation. 15 Feb 2007 http://www.impactchildren.org.)
Hemoglobin has two kinds of protein chains called alpha globin chains and beta globin chains.
Thallasemia can be caused by mutations in the alpha chain of the hemoglobin molecule. Normally, there are two alpha chain genes located on each #16 chromosome, for a total of 4. The alpha chain is an important component of fetal hemoglobin (which is usually made before birth) and hemoglobin A and hemoglobin A2 (which are present after birth). If an mutation happens to the alpha chain, it affects the body's ability to produce Hemoglobin, which causes the disorder.
Thallassemia patients red blood cells are often distorted and sometimes immature, containing a nuclues. This is because of an error, due to a point mutation in the beta-globin gene. A faulty beta-globin protein is then made, leading to severe anemia.
If the mutation affects the alpha-globin part of Hemoglobin, the disorder is alpha thallassemia and if the mutation happens to the beta-lobin part, it is called beta Thallasemia.
Source:http://www.healthsystem.virginia.edu/uvahealth/peds_hematology/thalapth.cfm
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